Noonan syndrome 12

A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in the RRAS2 gene on chromosome 11

A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in the RRAS2 gene on chromosome 11p15.2.

Signs and symptoms

• Feeding difficulties in infancy
• Polyhydramnios
• Strabismus
• Ventricular septal defect
• Glabellar hemangioma
• Motor delay
• Hypermetropia
• Hypotonia
• Supravalvular aortic stenosis
• Mild global developmental delay

Also known as: NS12